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Items: 1 to 20 of 125

1.

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.

Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):10-8. Review.

PMID:
11001791
2.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
3.

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.

Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA.

Mol Genet Metab. 2005 May;85(1):7-11. Epub 2005 Feb 16.

PMID:
15862275
4.

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N.

Hum Mutat. 2003 Jul;22(1):12-23.

PMID:
12815589
5.

Genetic risk factors associated with lipid-lowering drug-induced myopathies.

Vladutiu GD, Simmons Z, Isackson PJ, Tarnopolsky M, Peltier WL, Barboi AC, Sripathi N, Wortmann RL, Phillips PS.

Muscle Nerve. 2006 Aug;34(2):153-62.

PMID:
16671104
6.

Molecular analysis of Spanish patients with AMP deaminase deficiency.

Rubio JC, Martín MA, Del Hoyo P, Bautista J, Campos Y, Segura D, Navarro C, Ricoy JR, Cabello A, Arenas J.

Muscle Nerve. 2000 Aug;23(8):1175-8.

PMID:
10918252
7.

Recent developments in the investigation of inherited metabolic disorders using cultured human cells.

Roe CR, Roe DS.

Mol Genet Metab. 1999 Oct;68(2):243-57. Review.

PMID:
10527676
8.

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

Laforêt P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, Chaigne D, Boespflug-Tanguy O, Laroche C, Bedat-Millet AL, Behin A, Delevaux I, Lombès A, Andresen BS, Eymard B, Vianey-Saban C.

Neuromuscul Disord. 2009 May;19(5):324-9. doi: 10.1016/j.nmd.2009.02.007. Epub 2009 Mar 26.

PMID:
19327992
9.

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.

Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U.

J Pediatr. 2003 Sep;143(3):335-42.

PMID:
14517516
10.

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.

Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P.

Hum Mutat. 2001 Sep;18(3):169-89. Review.

PMID:
11524729
11.

Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.

Fischer S, Drenckhahn C, Wolf C, Eschrich K, Kellermann S, Froster UG, Schober R.

Clin Neuropathol. 2005 Mar-Apr;24(2):77-85.

PMID:
15803807
12.

Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations.

Giak Sim K, Carpenter K, Hammond J, Christodoulou J, Wilcken B.

Mol Genet Metab. 2002 Aug;76(4):327-34.

PMID:
12208138
13.

[Carnitine deficiency in inborn errors of metabolism].

Sela BA, Lerman-Sagie T, Berkovitz M.

Harefuah. 1997 Nov 16;133(10):419-23, 504. Hebrew.

PMID:
9418309
14.

Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father.

Bodman M, Smith D, Nyhan WL, Naviaux RK.

Arch Neurol. 2001 May;58(5):811-4.

PMID:
11346377
15.

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

Sigauke E, Rakheja D, Kitson K, Bennett MJ.

Lab Invest. 2003 Nov;83(11):1543-54. Review.

PMID:
14615409
16.

Metabolic myopathies.

Bosch EP, Munsat TL.

Med Clin North Am. 1979 Jul;63(4):759-82. Review. No abstract available.

PMID:
157414
17.

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, Shalev SA.

J Inherit Metab Dis. 2007 Apr;30(2):266. Epub 2007 Feb 15.

PMID:
17372854
18.

Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Pons R, Cavadini P, Baratta S, Invernizzi F, Lamantea E, Garavaglia B, Taroni F.

Pediatr Neurol. 2000 Feb;22(2):98-105.

PMID:
10738914
19.

[Changes in carnitine metabolism. A case report about probable partial deficiency of muscle carnitine palmitoyltransferase].

De Prà M, Oberti F, De Benedittis A.

Pediatr Med Chir. 1990 Jul-Aug;12(4):397-403. Review. Italian.

PMID:
2075107
20.

Neurological diseases in disorders of organic acids.

Marsden DL, Nyhan WL.

Curr Opin Neurol Neurosurg. 1992 Jun;5(3):349-54. Review.

PMID:
1623263

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